Incidental Mutation 'IGL01107:Pramel13'
ID |
50907 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel13
|
Ensembl Gene |
ENSMUSG00000028591 |
Gene Name |
PRAME like 13 |
Synonyms |
4930569K13Rik, Pramef12 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
IGL01107
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
144118244-144135034 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 144119664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 301
(I301N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030326]
[ENSMUST00000123854]
|
AlphaFold |
Q9D2F1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030326
AA Change: I301N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000030326 Gene: ENSMUSG00000028591 AA Change: I301N
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
223 |
414 |
7e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123854
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,687,948 (GRCm39) |
F215Y |
probably damaging |
Het |
2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
Akip1 |
C |
T |
7: 109,311,045 (GRCm39) |
T195M |
probably damaging |
Het |
Arhgef16 |
T |
C |
4: 154,364,701 (GRCm39) |
N631S |
probably benign |
Het |
Brat1 |
C |
T |
5: 140,702,932 (GRCm39) |
S544L |
probably damaging |
Het |
Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
Dnajc4 |
C |
T |
19: 6,966,869 (GRCm39) |
R153H |
probably benign |
Het |
Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
Fcgrt |
T |
C |
7: 44,742,752 (GRCm39) |
D343G |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
Ilrun |
A |
T |
17: 28,005,043 (GRCm39) |
|
probably null |
Het |
Krt86 |
T |
A |
15: 101,373,306 (GRCm39) |
L200Q |
probably damaging |
Het |
Lpcat1 |
T |
A |
13: 73,642,947 (GRCm39) |
F126I |
probably damaging |
Het |
Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably damaging |
Het |
Zdhhc20 |
T |
A |
14: 58,103,046 (GRCm39) |
E101V |
probably damaging |
Het |
|
Other mutations in Pramel13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Pramel13
|
APN |
4 |
144,121,310 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01935:Pramel13
|
APN |
4 |
144,119,172 (GRCm39) |
unclassified |
probably benign |
|
IGL02436:Pramel13
|
APN |
4 |
144,119,539 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02491:Pramel13
|
APN |
4 |
144,121,322 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02744:Pramel13
|
APN |
4 |
144,119,493 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03338:Pramel13
|
APN |
4 |
144,121,397 (GRCm39) |
missense |
probably benign |
0.01 |
R0005:Pramel13
|
UTSW |
4 |
144,122,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R1401:Pramel13
|
UTSW |
4 |
144,121,658 (GRCm39) |
missense |
probably benign |
0.00 |
R1611:Pramel13
|
UTSW |
4 |
144,119,382 (GRCm39) |
missense |
probably benign |
0.20 |
R1667:Pramel13
|
UTSW |
4 |
144,119,606 (GRCm39) |
nonsense |
probably null |
|
R2017:Pramel13
|
UTSW |
4 |
144,121,244 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2290:Pramel13
|
UTSW |
4 |
144,121,692 (GRCm39) |
missense |
probably benign |
0.19 |
R2290:Pramel13
|
UTSW |
4 |
144,121,269 (GRCm39) |
missense |
probably benign |
0.00 |
R2310:Pramel13
|
UTSW |
4 |
144,119,475 (GRCm39) |
splice site |
probably null |
|
R2912:Pramel13
|
UTSW |
4 |
144,119,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R2913:Pramel13
|
UTSW |
4 |
144,119,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R4558:Pramel13
|
UTSW |
4 |
144,122,542 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5162:Pramel13
|
UTSW |
4 |
144,121,482 (GRCm39) |
missense |
probably damaging |
0.96 |
R5521:Pramel13
|
UTSW |
4 |
144,122,541 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5530:Pramel13
|
UTSW |
4 |
144,119,232 (GRCm39) |
missense |
probably benign |
0.03 |
R5669:Pramel13
|
UTSW |
4 |
144,122,413 (GRCm39) |
missense |
probably benign |
0.03 |
R6032:Pramel13
|
UTSW |
4 |
144,119,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6032:Pramel13
|
UTSW |
4 |
144,119,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6314:Pramel13
|
UTSW |
4 |
144,121,157 (GRCm39) |
missense |
probably damaging |
0.98 |
R6322:Pramel13
|
UTSW |
4 |
144,119,475 (GRCm39) |
missense |
probably benign |
0.09 |
R6431:Pramel13
|
UTSW |
4 |
144,119,653 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7729:Pramel13
|
UTSW |
4 |
144,119,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R8324:Pramel13
|
UTSW |
4 |
144,122,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R8778:Pramel13
|
UTSW |
4 |
144,119,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R9711:Pramel13
|
UTSW |
4 |
144,122,517 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1187:Pramel13
|
UTSW |
4 |
144,122,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |